[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 225-229, 2024 Feb 10.
Article
en Zh
| MEDLINE
| ID: mdl-38311564
ABSTRACT
OBJECTIVE:
To analyze the clinical phenotype and genetic characteristics for a child with Canavan disease.METHODS:
A child who was admitted to the Children's Hospital Affiliated to Shandong University on April 9, 2021 for inability to uphold his head for 2 months and increased muscle tone for one week was subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.RESULTS:
Genetic testing revealed that the child has harbored compound heterozygous variants of the ASPA gene, including a paternally derived c.556_559dupGTTC (p. L187Rfs*5) and a maternally derived c.919delA (p. S307Vfs*24). Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2_Supporting+PM3).CONCLUSION:
The c.556_559dupGTTC (p.L187Rfs*5) and c.919delA (p.S307Vfs*24) compound heterozygous variants of the ASPA gene probably underlay the pathogenesis of Canavan disease in this child.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Canavan
Tipo de estudio:
Guideline
/
Prognostic_studies
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article